MCID: PYR011
MIFTS: 35

Pyropoikilocytosis malady

Genetic diseases, Rare diseases categories
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Summaries for Pyropoikilocytosis

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Wikipedia:65 Hereditary pyropoikilocytosis (HPP) is an autosomal recessive form of hemolytic anemia characterized by... more...

MalaCards based summary: Pyropoikilocytosis, also known as hereditary pyropoikilocytosis, is related to hereditary elliptocytosis and hereditary spherocytosis, and has symptoms including An important gene associated with Pyropoikilocytosis is SPTA1 (spectrin, alpha, erythrocytic 1 (elliptocytosis 2)), and among its related pathways are L1CAM interactions and NCAM signaling for neurite out-growth. Affiliated tissues include testes, and related mouse phenotypes are liver/biliary system and renal/urinary system.

Description from OMIM:46 266140

Aliases & Classifications for Pyropoikilocytosis

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Sources:
48Orphanet, 62UMLS, 46OMIM, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Pyropoikilocytosis, Aliases & Descriptions:

Name: Pyropoikilocytosis 46
 
Hereditary Pyropoikilocytosis 48 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM46 266140
ICD10 via Orphanet26 D58.1
UMLS via Orphanet63 C0520739

Related Diseases for Pyropoikilocytosis

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Diseases in the Pyropoikilocytosis family:

Pyropoikilocytosis Hereditary

Diseases related to Pyropoikilocytosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1hereditary elliptocytosis30.1EPB41, SPTA1, SPTB
2hereditary spherocytosis30.0SPTA1, SPTB
3pyropoikilocytosis hereditary10.5
4hemolytic anemia10.0
5congenital hemolytic anemia10.0
6homozygous hereditary elliptocytosis10.0
7deficiency anemia9.5EPB41, SPTA1, SPTB

Graphical network of diseases related to Pyropoikilocytosis:



Diseases related to pyropoikilocytosis

Symptoms for Pyropoikilocytosis

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Symptoms by clinical synopsis from OMIM:

266140

Clinical features from OMIM:

266140

HPO human phenotypes related to Pyropoikilocytosis:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hemolytic anemia HP:0001878
3 elliptocytosis HP:0004445
4 microspherocytosis HP:0004835
5 pyropoikilocytosis HP:0004839

Drugs & Therapeutics for Pyropoikilocytosis

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Drug clinical trials:

Search ClinicalTrials for Pyropoikilocytosis

Search NIH Clinical Center for Pyropoikilocytosis

Genetic Tests for Pyropoikilocytosis

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Anatomical Context for Pyropoikilocytosis

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MalaCards organs/tissues related to Pyropoikilocytosis:

32
Testes

Animal Models for Pyropoikilocytosis or affiliated genes

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MGI Mouse Phenotypes related to Pyropoikilocytosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053708.6SPTB, SPTA1, EPB41
2MP:00053678.5SPTB, SPTA1, EPB41
3MP:00053768.5SPTB, SPTA1, EPB41
4MP:00053978.4EPB41, SPTA1, SPTB
5MP:00053878.2SPTB, SPTA1, EPB41

Publications for Pyropoikilocytosis

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Articles related to Pyropoikilocytosis:

(show all 37)
idTitleAuthorsYear
1
Transfusion medicine illustrated. Red blood cell anomalies in the context of hereditary pyropoikilocytosis. (22882093)
2012
2
Detection of hereditary pyropoikilocytosis by the eosin-5-maleimide (EMA)-binding test is attributable to a marked reduction in EMA-reactive transmembrane proteins. (21054813)
2011
3
Effect of subtotal splenectomy for management of hereditary pyropoikilocytosis. (18492110)
2008
4
Nonsense mutations of the alpha-spectrin gene in hereditary pyropoikilocytosis. (18815189)
2008
5
Using the eosin-5-maleimide binding test in the differential diagnosis of hereditary spherocytosis and hereditary pyropoikilocytosis. (18454487)
2008
6
Hereditary pyropoikilocytosis: a rare but potentially severe form of congenital hemolytic anemia. (17279012)
2007
7
A novel splicing mutation of the alpha-spectrin gene in the original hereditary pyropoikilocytosis kindred. (16150946)
2005
8
Hereditary pyropoikilocytosis and the spectrin St. Claude allele. (14687038)
2004
9
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. (8755921)
1996
10
Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis. (9075575)
1996
11
Parvovirus B19 induced red blood cell aplasia in a patient with hereditary pyropoikilocytosis. (7795252)
1995
12
Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. (8364214)
1993
13
Hereditary pyropoikilocytosis. Clinical and laboratory analysis in eight infants and young children. (8418610)
1993
14
A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical model of spectrin. (1541680)
1992
15
Hereditary pyropoikilocytosis: A case report with thermal studies and scanning electron microscopy. (17590771)
1991
16
Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide. (1878597)
1991
17
A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis. (1845156)
1991
18
Hereditary pyropoikilocytosis and elliptocytosis in a white French family with the spectrin alpha I/74 variant related to a CGT to CAT codon change (Arg to His) at position 22 of the spectrin alpha I domain. (2328319)
1990
19
Alteration of the erythrocyte membrane skeletal ultrastructure in hereditary spherocytosis, hereditary elliptocytosis, and pyropoikilocytosis. (2364170)
1990
20
Structural and functional heterogeneity of alpha spectrin mutations involving the spectrin heterodimer self-association site: relationships to hematologic expression of homozygous hereditary elliptocytosis and hereditary pyropoikilocytosis. (2346784)
1990
21
Spectrin-alpha I/61: a new structural variant of alpha-spectrin in a double-heterozygous form of hereditary pyropoikilocytosis. (3167214)
1988
22
Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. (3620700)
1987
23
Hereditary pyropoikilocytosis and elliptocytosis in a Caucasian family. Transmission of the same molecular defect in spectrin through three generations with different clinical expression. (3692477)
1987
24
Clinical and laboratory study of two Caucasian families with hereditary pyropoikilocytosis and hereditary elliptocytosis. (3604989)
1987
25
Partial spectrin deficiency in hereditary pyropoikilocytosis. (3955236)
1986
26
Abnormal transbilayer mobility of phosphatidylcholine in hereditary pyropoikilocytosis reflects the increased heat sensitivity of the membrane skeleton. (3995028)
1985
27
Abnormalities in spectrin structure and function in hereditary pyropoikilocytosis and hereditary elliptocytosis. (6473460)
1984
28
Identification of the hereditary pyropoikilocytosis carrier state. (6722357)
1984
29
Hereditary pyropoikilocytosis: report of two cases from Saudi Arabia. (6476002)
1984
30
Molecular and functional changes in spectrin from patients with hereditary pyropoikilocytosis. (6863544)
1983
31
Molecular heterogeneity of hereditary pyropoikilocytosis: identification of a second variant of the spectrin alpha-subunit. (6640107)
1983
32
Hereditary pyropoikilocytosis and elliptocytosis: clinical, laboratory, and ultrastructural features in infants and children. (7099765)
1982
33
The pyropoikilocytosis-elliptocytosis syndrome in a black South African infant: clinical and hematological features. (7149173)
1982
34
Molecular defect of spectrin in hereditary pyropoikilocytosis. Alterations in the trypsin-resistant domain involved in spectrin self-association. (7130392)
1982
35
Altered assembly of spectrin in red cell membranes in hereditary pyropoikilocytosis. (7448405)
1981
36
Altered spectrin dimer-dimer association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. (7276161)
1981
37
Effect of heat on the circular dichroism of spectrin in hereditary pyropoikilocytosis. (447859)
1979

Variations for Pyropoikilocytosis

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UniProtKB/Swiss-Prot genetic disease variations for Pyropoikilocytosis:

64
id Symbol AA change Variation ID SNP ID
1SPTA1p.Lys48ArgVAR_001335
2SPTA1p.Leu207ProVAR_001339rs121918643

Clinvar genetic disease variations for Pyropoikilocytosis:

6
id Gene Name Type Significance SNP ID Assembly Location
1SPTBNM_001024858.2(SPTB): c.6053C> G (p.Ala2018Gly)single nucleotide variantPathogenicrs121918647GRCh37Chr 14, 65234547: 65234547
2SPTA1NM_003126.2(SPTA1): c.135G> T (p.Arg45Ser)single nucleotide variantPathogenicrs121918637GRCh37Chr 1, 158655027: 158655027
3SPTA1NM_003126.2(SPTA1): c.82C> A (p.Arg28Ser)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
4SPTA1NM_003126.2(SPTA1): c.82C> T (p.Arg28Cys)single nucleotide variantPathogenicrs121918642GRCh37Chr 1, 158655080: 158655080
5SPTA1NM_003126.2(SPTA1): c.83G> A (p.Arg28His)single nucleotide variantPathogenicrs121918641GRCh37Chr 1, 158655079: 158655079
6SPTA1NM_003126.2(SPTA1): c.620T> C (p.Leu207Pro)single nucleotide variantPathogenicrs121918643GRCh37Chr 1, 158650431: 158650431
7SPTA1NM_003126.2(SPTA1): c.143A> G (p.Lys48Arg)single nucleotide variantPathogenicrs121918644GRCh37Chr 1, 158655019: 158655019
8SPTA1SPTA1, IVS19, T-G, -13single nucleotide variantPathogenic
9SPTA1SPTA1, IVS22DS, G-A, +5single nucleotide variantPathogenic

Expression for genes affiliated with Pyropoikilocytosis

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Expression patterns in normal tissues for genes affiliated with Pyropoikilocytosis

Search GEO for disease gene expression data for Pyropoikilocytosis.

Pathways for genes affiliated with Pyropoikilocytosis

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Pathways related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.0SPTA1, SPTB
2
Show member pathways
9.0SPTA1, SPTB
39.0SPTA1, SPTB
4
Show member pathways
8.5EPB41, SPTA1, SPTB

Compounds for genes affiliated with Pyropoikilocytosis

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GO Terms for genes affiliated with Pyropoikilocytosis

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Cellular components related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein complexGO:0432349.1EPB41, SPTB
2intrinsic component of the cytoplasmic side of the plasma membraneGO:0312358.9SPTB, SPTA1
3actin cytoskeletonGO:0156298.7SPTB, SPTA1
4spectrin-associated cytoskeletonGO:0147318.6EPB41, SPTA1, SPTB
5spectrinGO:0080918.5EPB41, SPTA1, SPTB

Biological processes related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of protein bindingGO:0320929.2EPB41, SPTA1
2porphyrin-containing compound biosynthetic processGO:0067799.1SPTA1, SPTB
3plasma membrane organizationGO:0070099.1SPTA1, SPTB
4actin filament cappingGO:0516939.0SPTA1, SPTB
5axon guidanceGO:0074119.0SPTB, SPTA1
6hemopoiesisGO:0300978.7SPTB, SPTA1

Molecular functions related to Pyropoikilocytosis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.0SPTA1, SPTB
2actin filament bindingGO:0510158.9SPTA1, SPTB
3actin bindingGO:0037798.8EPB41, SPTB
4structural constituent of cytoskeletonGO:0052008.5EPB41, SPTA1, SPTB

Products for genes affiliated with Pyropoikilocytosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Pyropoikilocytosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet